425例羊水染色体核型分析与荧光原位杂交方法的比较

Comparison of Cytogenetic Karyotype and Fluorescence in Situ Hybridization in 425 Case of Amniotic Fluid

目的比较425例羊水染色体核型分析与染色体13,18,21,X和Y荧光原位杂交方法的结果,评估染色体13,18,21,X和Y荧光原位杂交作为染色体异常独立测试的安全性并分析漏诊染色体异常的类别。方法以染色体核型分析作为金标准,比较了2011年3-7月425例患者的羊水染色体核型分析与荧光原位杂交方法的结果。结果在425例患者中染色体核型分析共发现22例染色体异常(包括16例非整倍体)。染色体异常率为5.2%(22/425),非整倍体率为72.7%(16/22)。染色体13,18,21,X和Y荧光原位杂交方法共发现15例染色体异常,漏诊一例嵌合体。针对染色体13,18,21,X和Y,荧光原位杂交的敏感性和特异性分别为93.75%和100%,针对全部染色体时,荧光原位杂交的敏感性降到了68.2%而特异性仍为100%。荧光原位杂交漏诊的7例染色体异常分别为3例染色体易位,3例染色体到位,1例嵌合体。结论本研究不支持荧光原位杂交作为检测染色体异常的独立测试。

Objective To compare cytogenetic karyotype and fluorescence in situ hybridization with chromosomes 13,18,21,X and Y in 425 cases of amniotic fluid and assess the clinical security of fluorescence in-situ hybridization as a stand-alone test in detecting chromosomal abnormalities,and the types of chromosomal abnormalities missed. Methods Cytogenetic karyotyping was carried out as a standard prenatal diagnostic test,compared fluorescence in situ hybridisation with cytogenetic karyotype of 425 patients performed between March 2011 and July 2011. Results In 425 cases,cytogenetic karyotype found 22 abnormal karyotypes（including 16 aneuploidies）.The rate of abnormal cases was 5.2%（22/425） and the rate of aneuploidy was 72.7%（16/22）.Fluorescence in situ hybridization with chromosomes 13,18,21,X and Y found 15 cases with chromosomal abnormalities and missed one mosaic.When comparing fluorescence in situ hybridisation data with karyotype results for chromosomes 13,18,21,X and Y,the sensitivity and specificity were 93.75% and 100%,respectively.When comparing fluorescence in situ hybridisation data with karyotype results for all chromosomes,the sensitivity decreased to 68.2%,whereas the specificity remained at 100%.Fluorescence in situ hybridisation missed 7 cases which included 3 cases of translocation,3 cases of inversion and 1 case of mosaic. Conclusions This study does not support fluorescence in situ hybridisation as a stand-alone test to detect chromosomal abnormalities.